Glucocerebrosidase mutations in diffuse Lewy body disease

Kenya Nishioka, Owen A. Ross, Carles Vilariño-Güell, Stephanie A. Cobb, Jennifer M. Kachergus, David M.A. Mann, Julie Snowden, Anna M.T. Richardson, David Neary, Christopher A. Robinson, Alex Rajput, Spiridon Papapetropoulos, Deborah C. Mash, Rajesh Pahwa, Kelly E. Lyons, Zbigniew K. Wszolek, Dennis W. Dickson, Matthew J. Farrer

Research output: Contribution to journalArticle

32 Scopus citations

Abstract

Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease.

Original languageEnglish (US)
Pages (from-to)55-57
Number of pages3
JournalParkinsonism and Related Disorders
Volume17
Issue number1
DOIs
StatePublished - Jan 1 2011

    Fingerprint

Keywords

  • DLBD
  • GBA
  • Gaucher disease
  • Genetics

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Nishioka, K., Ross, O. A., Vilariño-Güell, C., Cobb, S. A., Kachergus, J. M., Mann, D. M. A., Snowden, J., Richardson, A. M. T., Neary, D., Robinson, C. A., Rajput, A., Papapetropoulos, S., Mash, D. C., Pahwa, R., Lyons, K. E., Wszolek, Z. K., Dickson, D. W., & Farrer, M. J. (2011). Glucocerebrosidase mutations in diffuse Lewy body disease. Parkinsonism and Related Disorders, 17(1), 55-57. https://doi.org/10.1016/j.parkreldis.2010.09.009